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The anomaly scan, also sometimes called the anatomy scan, 20-week ultrasound, or level 2 ultrasound, evaluates anatomic structures of the fetus, placenta, and maternal pelvic organs. This scan is an important and common component of routine prenatal care . [ 1 ]
Second-trimester ultrasound screening for aneuploidies is based on looking for soft markers and some predefined structural abnormalities. Soft markers are variations from normal anatomy, which are more common in aneuploid fetuses compared to euploid ones. These markers are often not clinically significant and do not cause adverse pregnancy ...
Second-trimester maternal serum screening (AFP screening, triple screen, quad screen, or penta screen) can check levels of alpha fetoprotein, β-hCG, inhibin-A, estriol, and h-hCG (hyperglycosolated hCG) in the woman's serum. The triple test measures serum levels of AFP, estriol, and beta-hCG, with a 70% sensitivity and 5% false-positive rate.
In another study values of 79.6% and 2.7% for the combined screening were then improved with the addition of second trimester ultrasound scanning to 89.7% and 4.2% respectively. [13] A further study reported detection of 88% for trisomy 21 (Down syndrome) and 75% for trisomy 18 ( Edwards syndrome ), with a 3.3% false-positive rate. [ 14 ]
When an echogenic intracardiac focus is identified in an otherwise normal second trimester fetus, a normal cell-free DNA test can be very reassuring and obviate the need for invasive testing. Amniocentesis is a test to check a baby's chromosomes. A small amount of amniotic fluid, which contains some fetal cells, is removed and tested.
Spina bifida can usually be detected during the second trimester of pregnancy by fetal ultrasound. [59] Increased levels of maternal serum alpha-fetoprotein (MSAFP) should be followed up by two tests – an ultrasound of the fetal spine and amniocentesis of the mother's amniotic fluid (to test for alpha-fetoprotein and acetylcholinesterase).
The condition can often be seen as malformations that can be diagnosed by a prenatal anomaly scan in the second trimester, while progressively detailed examinations can be conducted after the first day of life of the baby. [3]
The triple test, also called triple screen, the Kettering test or the Bart's test, is an investigation performed during pregnancy in the second trimester to classify a patient as either high-risk or low-risk for chromosomal abnormalities (and neural tube defects). The term "multiple-marker screening test" is sometimes used instead.
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